[HTML][HTML] Hereditary hemorrhagic telangiectasia: from molecular biology to patient care
S Dupuis‐Girod, S Bailly, H Plauchu - Journal of Thrombosis and …, 2010 - Elsevier
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder
characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in
some cases, life‐threatening visceral arteriovenous malformations of various types,
including pulmonary, hepatic, cerebral, and spinal. Gastrointestinal telangiectases are
frequent and may cause severe bleeding. HHT type 1 results from mutations in ENG on
chromosome 9 (coding for endoglin), and HHT type 2 results from mutations in ACVRL1 on …
characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in
some cases, life‐threatening visceral arteriovenous malformations of various types,
including pulmonary, hepatic, cerebral, and spinal. Gastrointestinal telangiectases are
frequent and may cause severe bleeding. HHT type 1 results from mutations in ENG on
chromosome 9 (coding for endoglin), and HHT type 2 results from mutations in ACVRL1 on …